Peripheral/autonomous nervous system: acroparesthesia (prickling or numbness) and neuropathic burning pain of the hands and feet, ‘pain crises’ triggered by cold, heat, physical or emotional stress, intercurrent diseases or alcohol consumption (detectable small fibre neuropathy)

Hypohidrosis (rarely hyperhidrosis), reduced saliva and tear production, impaired intestinal motility, orthostatic dysregulation, vertigo

Skin: angiokeratoma (reddish to blue-black vascular dilatations that do not lose their colour under pressure, often show moderate hyperkeratosis and gradually expand), mostly in groups gluteal, periumbilical, scrotal and on the thighs, sometimes on the lips, fingertips, mucous membranes (oral mucosa and conjunctiva)

Gastrointestinal: gastrointestinal complaints (postprandial abdominal pain, flatulence, diarrhoea, gastric reflux)

Lung: obstructive (and restrictive) respiratory diseases

Eyes: cornea verticillata (corneal opacity visible in ophthalmological examination with a slit lamp), tortuositas vasorum (conspicuous tortuosity of the conjunctival and retinal vessels), Fabry cataract

Ears: progressive sensorineural hearing loss (particularly high frequencies), tinnitus

Musculoskeletal system: characteristic deformation of the interphalangeal joints of the fingers (reduced extensibility of the distal end joints of the fingers), in some cases, drum flail fingers and toes. ossified tendon insertions, degenerative joint changes, aseptic bone necrosis

Robustness: physical exhaustion, fatigue

Additional manifestations: reduced body growth, delayed puberty, fertility disorder, impotence, characteristic facial features (partly progeny of the lower jaw, pronounced supraorbital ridges and frontal cusps), anomaly in the oral and dental area such as cysts and pseudocysts of the maxillary sinus

First renal and cardiac abnormalities (including microalbuminuria, proteinuria and abnormal heart rate variability)

Early adulthood (17–30 years)

In addition to above mentioned manifestations:

Fabry nephropathy: proteinuria and progressive renal insufficiency; often renal cysts (unclear cause), renal hypertension

Fabry cardiomyopathy: left ventricular hypertrophy (mostly concentric), conduction disorders (atrial fibrillation, supraventricular and ventricular tachycardia), valve dysfunction (mitral valve and aortic valve), angina pectoris and intramyocardial fibrosis (‘late enhancement’ in cardiac MRI)

Cerebral manifestations: transient ischaemic attack (TIA), ischaemic insult, rare intracerebral haemorrhage, ectasia of the basilar artery and white matter lesions (lesions of the white matter in the cerebral MRI), disturbed cerebral blood flow, lymphoedema of the lower extremity

Depression, psychoses, limited quality of life